期刊
FRONTIERS IN CELLULAR NEUROSCIENCE
卷 16, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fncel.2022.942976
关键词
spinal muscular atrophy; SMN1; 2; antisense oligonucleotide; splicing regulation; nusinersen
资金
- National Science Foundation of China
- Innovation and Entrepreneurship Program of Jiangsu Province
- [32000841]
- [JSSCBS20211605]
Spinal muscular atrophy (SMA) is a fatal autosomal recessive disorder that previously had no effective treatment. However, with major scientific discoveries and contributions from scientists, the development of the drug nusinersen has brought hope to SMA patients.
Spinal muscular atrophy (SMA) is an autosomal recessive disorder with an incidence of 1/6,000-1/10,000 and is the leading fatal disease among infants. Previously, there was no effective treatment for SMA. The first effective drug, nusinersen, was approved by the US FDA in December 2016, providing hope to SMA patients worldwide. The drug was introduced in the European Union in 2017 and China in 2019 and has so far saved the lives of several patients in most parts of the world. Nusinersen are fixed sequence antisense oligonucleotides with special chemical modifications. The development of nusinersen progressed through major scientific discoveries in medicine, genetics, biology, and other disciplines, wherein several scientists have made substantial contributions. In this article, we will briefly describe the pathogenesis and therapeutic strategies of SMA, summarize the timeline of important scientific findings during the development of nusinersen in a detailed, scientific, and objective manner, and finally discuss the implications of the development of nusinersen for SMA research.
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